The move means that babies identified as at risk of developing retinoblastoma can be monitored and treated more quickly – increasing the chances of saving their sight and potentially their lives.
Symptoms of retinoblastoma are difficult to detect and a diagnosis can usually only be made when the tumor has developed and the eye cannot be saved, NHS executives have said.
And the new, non-invasive test, developed by the Birmingham Women’s and Children’s NHS Foundation Trust, can detect changes in genes in DNA and is likely to identify about 50 infants with the condition each year.
Non-invasive prenatal diagnosis (NIPD) also means that parents can be informed early in pregnancy if their child is at risk. The blood sample is taken from the mother before birth and tested and analyzed for mutations that can determine with almost 100 percent accuracy whether the baby will develop retinoblastoma.
Treatment can then start on the affected eye as soon as the baby is born, with doctors closely monitoring the other eye for any signs. The test can also predict whether the disease may develop in their siblings and will be offered to families where there is a confirmed case of retinoblastoma in the family.
In addition to the groundbreaking new test, Birmingham Women’s and Children’s Hospitals is also developing a non-invasive postnatal cancer test for retinoblastoma patients using eye fluid – which can also identify whether a patient is at risk for other cancers later in life. It is hoped that in the future this could eventually be done by a simple blood test.
NHS CEO Amanda Pritchard said: “The introduction of this groundbreaking new test is fantastic news for babies and their parents and has the potential to save hundreds of lives over the coming years.
“Cancer is such a terrible disease, and a baby born with it can have a huge impact on parents and families in what should be an incredibly happy time, but backed by world-class innovation and services like NHS Genomic Medicine Service, through the Long-Term Plan The NHS develops and delivers several groundbreaking treatments like this one to help save lives and keep families together. “
Dr. Amy Gerrish, of the Birmingham Women’s and Children’s Trust, which was behind the groundbreaking research, added: “The introduction of this technology for cell-free DNA analysis will revolutionize the management of all aspects of retinoblastoma from early detection, selection of the best treatments , identification of family members at risk for retinoblastoma and early detection and treatment of associated cancers in adults.
“We also believe it will help alleviate the huge discrepancy in retinoblastoma outcome for people in high-income and low- and middle-income countries that has been highlighted by the World Health Organization (WHO).”
Stephanie Allen, clinical consultant at Birmingham Women’s Hospital, said: “An early diagnosis will allow clinicians to manage, monitor and prepare treatments much earlier, which may change the prognosis for the baby.
“It will also give the family security and allow them to prepare for the birth knowing the support the clinical team will give them.”
The NIPD is one of more than 15 new tests and amendments being added to the National Genomic Test Directory (NGTD), which outlines the genomic tests available through the NHS in England through the NHS Genomic Medicine Service (GMS).
The library, which is the only one of its kind, covers more than 3,000 rare diseases and over 200 types of cancer. Among the other additions to the library are tests for gene mutations that cause forms of breast and endometrial cancer, acute myeloid leukemia and several rare diseases. A genetic test for a specific type of advanced lung cancer has received a matching treatment recently approved by the National Institute for Health and Care Excellence (NICE), meaning more effective treatment for patients.
Professor Dame Sue Hill, chief scientific officer and senior head of genomics at NHS England said: “This new test is a perfect example of how the NHS Genomic Medicine Service utilizes cutting-edge technology to deliver genomic tests for cancers like this and many other conditions through National Genomic Test Directory – which means more comprehensive and earlier diagnoses and more targeted treatments faster for all our patients. “